Genetics for the Health Sciences

Contents:

Preface • About the authors • Notes to readers on the format of this book • Helpful websites

Chapter 1: Setting the scene • Introduction to the book • Defining genetic counseling • Genetic services • Types of genetic testing • Ethical practice • Genetic testing of children • Genetics and insurance • Impact of the genetic condition on families • Nondirectiveness in genetic health care • Disability and choice • Conclusion • Test yourself • Further resources

Chapter 2: The family history • Introduction • Guidelines for drawing the family tree • Drawing the tree • a practical example using the Singh family • Dealing with unexpected information when taking the family tree • Inheritance patterns • Making a numerical assessment of risk • Bayesian calculations • Using the Hardy?Weinberg equation to calculate carrier risk • Lay knowledge and the perception of risk • Conclusion • Further resources • Test yourself

Chapter 3: Counseling issues • Introduction to counseling in the context of genetic healthcare • The psychological needs of the client and the family • Basic counseling skills • Non-directiveness • Models of counseling • Counseling supervision • Conclusion • Further resources

Chapter 4: Basic concepts in genetic science • Introduction • The chromosomes • Investigating the chromosome structure • Molecular cytogenetics • Mendelian inheritance • Expression and penetrance • Genetic mutations • Polygenic inheritance • Mitochondrial inheritance • The Human Genome Project and beyond • Treatment of genetic disease • Conclusion • Test yourself • Further resources

Chapter 5: Public health genetics • Introduction • Evaluation of genetic tests • Direct to consumer genetic testing • Implications for practice • Test yourself • Further resources

Chapter 6: Before conception • Introduction • Maternal age • Neural tube defects and the role of folic acid in lowering the risk • Genetic conditions affecting the mother • Maternal drug therapy • Consanguinity • Preparing for prenatal diagnosis • Pre-implantation genetic diagnosis • Issues of fertility • Adoption • Conclusion • Test yourself • Further resources

Chapter 7: Pregnancy and the perinatal period • Introduction • Care of the mother during pregnancy • Spontaneous abortion (miscarriage) • Down syndrome (trisomy 21) • Antenatal screening • Antenatal testing techniques • Examination of the neonate • Post-mortem examination of the neonate • Conclusion • Test yourself • Further resources

Chapter 8: Infancy • Introduction • Congenital abnormalities • Chromosone abnormalities • Examination of the neonate • Breaking bad news • Genetic testing in the neonate • Neonatal screening • Conclusion • Test yourself • Further resources

Chapter 9: Childhood and adolescence • Introduction • Why seek a diagnosis? • Developmental delay • Learning disability • What is dysmorphism? • Genetic conditions in childhood • Genetic testing of children • Genetics of common complex disorders and traits affecting children • Genetic healthcare issues in adolescence • Conclusion • Test yourself • Further resources

Chapter 10: Adulthood • Introduction • Familial cancer • Huntington disease • a model for pre-symptomatic testing • Psychiatric conditions • Genetic hemochromatosis • The perspective of the family carer • The multi-professional team and long-term care • Informed consent and mental capacity • Conclusion • Test yourself • Further resources

Chapter 11: Older adulthood • Introduction • Genomics and aging • Genetic testing and common diseases • Pharmacogenomics • Attitudes of older adults to genetic testing • Psychosocial issues relevant to older adults • Conclusion • Test yourself • Further resources

Chapter 12: Development of genetic healthcare competence in the health professions • Introduction • A matter of peas • historic development in genetics • The eugenics movement • Growth of medical genetics • Establishment of specialist genetic services • Genetic services • the current situation • Establishment of a genetic counseling profession • Core competences in genetics for health professionals not specializing in genetics • Conclusion • Further resources • Glossary of terms • References • Answers to ?Test yourself • questions

Appendix 1 • The Bayesian calculation • Appendix 2 • The Hardy?Weinberg equilibrium • Appendix 3 • Southern blotting
Index

 

About the Authors:

Heather Skirton Professor of Applied Health Genetics, University of Plymouth, UK
Christine Patch Consultant Genetic Counsellor, Clinical Genetics Department  Guys's and St Thomas? NHS Foundation Trust, London, UK